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ONTOLOGY REPORT - ANNOTATIONS


Term:torsion dystonia 2
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Accession:DOID:0090038 term browser browse the term
Definition:A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35. (DO)
Synonyms:exact_synonym: DYT2;   Dystonia Musculorum Deformans 2;   Dystonia Musculorum Deformans Type 2;   torsion dystonia 2, autosomal recessive;   torsion dystonia 2, autosomal recessive type
 primary_id: MESH:C538006
 alt_id: OMIM:224500;   RDO:0003935
 xref: ORDO:99657
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torsion dystonia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpca hippocalcin JBrowse link 5 147,295,124 147,305,757 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          Nervous System Heredodegenerative Disorders 1718
            Dystonia Musculorum Deformans 4
              torsion dystonia 2 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            movement disease 1000
              Dyskinesias 710
                dystonia 81
                  generalized dystonia 7
                    Dystonia Musculorum Deformans 4
                      torsion dystonia 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.